GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

Hiroshi Ichinose; Tamae Ohye; Masaya Segawa; Yoshiko Nomura; Kotaro Endo; Hajime Tanaka; Shoji Tsuji; Keisuke Fujita; Toshiharu Nagatsu

doi:10.1016/0304-3940(95)11820-M

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

Hiroshi Ichinose
, Tamae Ohye
, Masaya Segawa
, Yoshiko Nomura
, Kotaro Endo
, Hajime Tanaka
, Shoji Tsuji
, Keisuke Fujita
, Toshiharu Nagatsu

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

54 被引用数 (Scopus)

抄録

We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.

本文言語	英語
ページ（範囲）	5-8
ページ数	4
ジャーナル	Neuroscience Letters
巻	196
号	1-2
DOI	https://doi.org/10.1016/0304-3940(95)11820-M
出版ステータス	出版済み - 18-08-1995
外部発表	はい

All Science Journal Classification (ASJC) codes

神経科学一般

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10.1016/0304-3940(95)11820-M

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title = "GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation",

abstract = "We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.",

author = "Hiroshi Ichinose and Tamae Ohye and Masaya Segawa and Yoshiko Nomura and Kotaro Endo and Hajime Tanaka and Shoji Tsuji and Keisuke Fujita and Toshiharu Nagatsu",

note = "Funding Information: This work was supported by a Grant-in-Aid from theHereditary progressive dystonia with marked diurnal fluctuation, Ministry of Education, Science, and Culture of Japan (tIon R. Eldridge and S. Fahn (Eds.), Advances in Neurology Vol.",

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doi = "10.1016/0304-3940(95)11820-M",

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T1 - GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

AU - Ichinose, Hiroshi

AU - Ohye, Tamae

AU - Segawa, Masaya

AU - Nomura, Yoshiko

AU - Endo, Kotaro

AU - Tanaka, Hajime

AU - Tsuji, Shoji

AU - Fujita, Keisuke

AU - Nagatsu, Toshiharu

N1 - Funding Information: This work was supported by a Grant-in-Aid from theHereditary progressive dystonia with marked diurnal fluctuation, Ministry of Education, Science, and Culture of Japan (tIon R. Eldridge and S. Fahn (Eds.), Advances in Neurology Vol.

PY - 1995/8/18

Y1 - 1995/8/18

N2 - We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.

AB - We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.

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U2 - 10.1016/0304-3940(95)11820-M

DO - 10.1016/0304-3940(95)11820-M

M3 - Article

C2 - 7501255

AN - SCOPUS:0029093393

SN - 0304-3940

VL - 196

SP - 5

EP - 8

JO - Neuroscience Letters

JF - Neuroscience Letters

IS - 1-2

ER -

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation

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